get healthing in your inbox with the morning checkup and weekender newsletter!

rare diseases

diagnosed with rett syndrome: managing care, finding support and celebrating small successes

navigating the healthcare system when your child has a rare disease isn't always easy, but it can be more manageable if you have a good care team and solid support.

by angelica bottaro

published oct 25, 2024

last updated oct 28, 2024

6 minute read

join the conversation

6 minute read

join the conversation

celebrating your child's successes is a vital component of rett syndrome management. getty images

rett syndrome is a rare genetic neurological disorder that predominantly affects females. it is caused by a randomly occurring mutation in the mecp2 gene. children who develop rett syndrome generally start to show symptoms around one to two years of age, but they often appear completely healthy in the first six months of life.

when the signs of rett syndrome begin to develop, such as slowed development, loss of movement and communication, and unusual hand movements, it can be hard to discern between “normal” infant behaviours and disease characteristics. because of this, and because it’s rare—there are only 600 to 900 cases in canada—diagnosing rett syndrome can be a challenge.

dr. laura mcadam, a pediatrician at holland bloorview kids rehabilitation hospital in toronto, ontario, works in the rett syndrome clinic and sees how difficult it can be to reach a diagnosis for parents who have children living with the disease.

“the challenge with rett syndrome (is that) children are developing, and so that means they’re gaining skills. they’re sitting, they’re interacting, they can be talking, and then at some point in time, their development, usually within 18 months to two years of age, there’s this slowing of the gaining of these developmental skills,” she said. “then, they hit a period of time where they regress, and they lose some of the skills they have already gained.”

as children get older, the symptoms become hard to ignore. that’s where it becomes vital for parents to have a family doctor or pediatrician so they can seek out a proper diagnosis as early as possible if they have any concerns early on, dr. mcadam notes.

when that diagnosis does come, knowing how to navigate the system will greatly help ensure that your child has the best care and quality of life possible as they age.

establish a care team

throughout canada, finding a rett syndrome care team can be a challenge because the type of specialists people have access to varies by geographical location.

“it really depends on where you live,” said dr. mcadam. “there are different individuals that have expertise in rett syndrome.”

she also notes that having a pediatrician is the first step in establishing a care team, as they can act as a bridge towards other specialist providers that a child with rett syndrome might need. since the disease affects many bodily systems, they could need many, including:

neurologists
pulmonologists
gastroenterologists
geneticists
physiotherapists
occupational therapists

each provider has a role to play in the management of rett syndrome, and having a solid care team is the only way to provide the best possible care and symptom management for a child living with the disorder.

a healthcare team can be a great support when it comes to important questions as well.

“your healthcare teams are excellent resources. ask questions and know that all questions are important,” dr. mcadam said. “if that person isn’t the right person, they’ll help guide you to the right person.”

each case is also unique, so while one family might need access to a gastroenterologist, another will not. understanding that there is no one-size-fits-all approach and paying attention to your child’s specific needs is required to build a unique care network.

“it’s really important to build a support network, and that’s going to look very different for every family.”

access early intervention

early intervention is a crucial component of managing rett syndrome. there are very few treatments geared toward managing the disease itself, but supportive treatments to curb symptoms are available.

recently, the drug daybue was approved to treat rett syndrome in canada, adding another tool to the arsenal of rett syndrome management. this drug is only approved for children aged two and older, though, so getting other supportive therapies in place before being able to access the medication is vital.

“when we’re looking at early intervention, we’re looking at rehabilitation assessments to promote development to maximize the child’s development and quality of life,” said dr. mcadam. “so, that’s going to be working with your children’s treatment centre.”

dr. mcadam notes that any interventions a person has access to “should be jumped on right away.” as for the medication, she said, “there’s a lot we don’t know about it. it is brand new, and i think there’s going to be, from my perspective, there’s time,” to have the needed discussions before jumping into the pharmaceutical option.

that said, parents or guardians can speak with their care team about when the drug will be accessible, the potential downsides that come with introducing a new drug into a care regimen, and whether or not it’s something they want to use to supplement their current care plan for their child.

find support and resources

finding support through organizations dedicated to helping those with rett syndrome can help tap into available resources. organizations across the country, including the ontario rett syndrome organization, the manitoba rett syndrome association, and the rett syndrome society of alberta, work with families to provide what they need for support while they navigate the system.

even international organizations, such as the international rett syndrome foundation, can be of help in canada.

“there are some incredible organizations both in canada as well as in the u.s. and broader,” said dr. mcadam. “they’re incredible, incredible, sources of information, incredible connection with family members, other caregivers, and they also link with many healthcare professionals that have the expertise. so, the information they provide is quality information, which is helpful for families.”

the emotional experience of having a child diagnosed with rett syndrome can also be challenging, so dr. mcadam notes that parents or guardians should seek out support when they’re ready to.

“many of the children’s treatment centres around ontario do have social workers that can provide emotional support for families when families are ready for that,” she said. “it is such a personal journey that each individual would be able to access that support when it is the right time for them.”

conferences on rett syndrome are another excellent option for parents and guardians to attend to learn more about the disease and care tips and connect with other families who are living with a similar experience.

these conferences can be found through the organizations mentioned above, and as dr. mcadam notes, they’re incredibly beneficial to “create a sense of community.”

if it is not feasible to attend these conferences due to geographical location, many of them also offer virtual options to allow for those who cannot physically be there to benefit from the information and connection they provide.

“those conferences are incredible places because there’s an educational component, but there’s also a social component where you can meet other families,” she said. “that sense of community is quite incredible and all the conferences i’ve been to, they’re so welcoming, which is a wonderful experience.”

celebrate your child’s successes

caring for a child with rett syndrome is difficult for several reasons. no parent or guardian wants to see their child sick, and the ideas that they’ve had for the future of their child and all the experiences they will miss out on can feel overwhelming.

“it is hard. your envisioned future has changed for your child,” said dr. mcadam.

because those milestones that parents and guardians typically look forward to are now different because of rett syndrome, celebrating successes, regardless of how small, is vital to providing the best quality of life for a child with rett syndrome and staying positive in the face of adversity.

“that brings me so much joy in the clinic when i’m talking with families, and they’re sharing with me the day-to-day successes that they’re seeing with their child. it could be communication. it could be an interaction. it could be a smile. it could be a birthday party,” she said. “(it’s) so important to take the time to sit in that success and enjoy (it).”

angelica bottaro

angelica bottaro is the lead editor at healthing.ca, and has been content writing for over a decade, specializing in all things health. her goal as a health journalist is to bring awareness and information to people that they can use as an additional tool toward their own optimal health.

diagnosed with rett syndrome: managing care, finding support and celebrating small successes

navigating the healthcare system when your child has a rare disease isn't always easy, but it can be more manageable if you have a good care team and solid support.

how i care for rett syndrome: 'i'm not giving up' on my daughter